MRI of neuronal ceroid lipofuscinosis. II. Postmortem MRI and histopathological study of the brain in 16 cases of neuronal ceroid lipofuscinosis of juvenile or late infantile type

1997 ◽  
Vol 39 (5) ◽  
pp. 371-377 ◽  
Author(s):  
T. Autti ◽  
R. Raininko ◽  
P. Santavuori ◽  
S. L. Vanhanen ◽  
V. P. Poutanen ◽  
...  
Keyword(s):  
Neuronal Ceroid Lipofuscinosis ◽  
Histopathological Study ◽  
Postmortem Mri ◽  
Ceroid Lipofuscinosis ◽  
The Brain ◽  
Infantile Type

Juvenile-onset Neuronal Ceroid-Lipofuscinosis in Rambouillet Sheep

1994 ◽  
Vol 31 (1) ◽  
pp. 48-54 ◽  
Author(s):  
J. F. Edwards ◽  
R. W. Storts ◽  
J. R. Joyce ◽  
J. M. Shelton ◽  
C. S. Menzies
Keyword(s):  
Nervous System ◽  
Neuronal Degeneration ◽  
Neuronal Ceroid Lipofuscinosis ◽  
Disease Process ◽  
Autosomal Recessive Inheritance ◽  
Human Beings ◽  
Juvenile Onset ◽  
Ceroid Lipofuscinosis ◽  
Disease States ◽  
The Brain

Two, 8-month-old Rambouillet half-sister ewes with signs of visual loss and decreased mentation were examined. Ewe No. 1 was necropsied at 10 months of age, and alter being held under observation for a further 6 months, ewe No. 2 was necropsied at 16 months of age. At that time, the ewe was blind and severely depressed. Both ewes had deposition of an autofluorescent lipopigment, identified as ceroid-lipofuscin, in neurons of the brain, spinal cord, eye, and dorsal root ganglia. The disease process was progressive and characterized by deposition of lipopigment with neuronal degeneration and severe fibrillary aslrogliosis. This progressive loss of neurons in the older ewe led to severe retinal degeneration. No pigment was observed in cells outside of the nervous system and eye. Controlled breeding studies have shown that this disease has an autosomal, recessive inheritance. The disease referred to here as juvenile-onset neuronal ceroid-lipofuscinosis of Rambouillet sheep is unlike the majority of the hereditary ceroid-lipofuscinoses that occur in human beings and animals in that only the nervous system is affected. Therefore, this disease could serve as an excellent model for the study of lipopigment deposition that affects the nervous system as a result of various disease states and during aging.

Infantile Type of So-Called Neuronal Ceroid-Lipofuscinosis

1974 ◽  
Vol 23 (S1) ◽  
pp. 197-200 ◽  
Author(s):  
Pirkko Santavuori ◽  
Matti Haltia ◽  
Juhani Rapola ◽  
Christina Raitta ◽  
Antti Keranen
Keyword(s):  
Autosomal Recessive ◽  
Neuronal Ceroid Lipofuscinosis ◽  
Muscular Hypotonia ◽  
Ceroid Lipofuscinosis ◽  
Clinical Onset ◽  
Total Destruction ◽  
Progressive Encephalopathy ◽  
The Mean ◽  
Infantile Type ◽  
Age Of Death

Attention was recently drawn to a progressive encephalopathy with early amaurosis. The disease has its clinical onset at the age of 8-18 months with rapid psychomotor deterioration, ataxia, muscular hypotonia. In the 45 cases examined microcephaly and myoclonic jerks were other prominent features; convulsions were few or did not occur at all. In all patients the disease reached a burnt-out stage during the third year. After the age of 5 years all children had a permanent increased flexor tonus in all limbs and flexion contractures were common. The mean age of death was 7.6 years. Early extinction of ERG, typical ophthalmological findings, and EEG records rapidly approaching isoelectricity were additional features.The disease has an autosomal recessive mode of inheritance. A total of 52 cases are known in Finland. Histologically, an almost total destruction of cerebral and cerebellar neurons was observed. The surviving neurons and glial cells contained granular material which histochemically resembled lipofuscin but ultrastructurally differed from those in earlier reported patients with neuronal ceroid-lipofuscinosis. The cases observed seem to form a clearly separable infantile type of so-called neuronal ceroid-lipofuscinosis.

scholarly journals Neuronal Ceroid-lipofuscinosis in a Cat

1995 ◽  
Vol 32 (5) ◽  
pp. 485-488 ◽  
Author(s):  
R. Bildfell ◽  
C. Matwichuk ◽  
S. Mitchell ◽  
P. Ward
Keyword(s):  
Neuronal Ceroid Lipofuscinosis ◽  
Clinical Signs ◽  
Neuronal Ceroid Lipofuscinoses ◽  
Neurologic Disease ◽  
Ceroid Lipofuscinosis ◽  
Neural Tissues ◽  
Retinal Atrophy ◽  
The Brain ◽  
Reactive Astrocytosis ◽  
Ceroid Lipofuscin

Neuronal ceroid-lipofuscinosis was diagnosed in a young adult domestic short-haired cat euthanatized because of severe progressive neurologic disease. Clinical signs included blindness, seizures, and decreased mentation. An autofluorescent pigment, identified as ceroid-lipofuscin by electron microscopy and staining properties, was found within neurons of the central and peripheral nervous systems. A diffuse reactive astrocytosis accompanied by multifocal microgliosis was visible in all areas of the brain. Retinal atrophy with intraneuronal lipopigment accumulation was also identified. Contrary to the human neuronal ceroid-lipofuscinoses, pigment deposition appeared to be restricted to neural tissues.

MRI Evaluation of the Brain in Infantile Neuronal Ceroid-Lipofuscinosis

1995 ◽  
Vol 10 (6) ◽  
pp. 444-450 ◽  
Author(s):  
Sanna-Leena Vanhanen ◽  
Raili Raininko ◽  
Taina Autti ◽  
Pirkko Santavuori
Keyword(s):  
Neuronal Ceroid Lipofuscinosis ◽  
Infantile Neuronal Ceroid Lipofuscinosis ◽  
Ceroid Lipofuscinosis ◽  
The Brain ◽  
Mri Evaluation
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